A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2618457



Internal ID8682015
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr10:17670518..17671103hg38UCSC Ensembl
Outerchr10:17712517..17713102hg19UCSC Ensembl
Outerchr10:17752523..17753108hg18UCSC Ensembl
Cytoband10p12.33
Allele length
AssemblyAllele length
hg38383
hg19383
hg18383
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5293283
SamplesNA18507
Known GenesSTAM
MethodSequencing
AnalysisLarger insertions and deletions are found by looking at variation in mate pair distances in the 2x50 mate pair libraries. These data are included in separate files for each of three coverage values: 2.2x, 4.0x, 5.6x, and 8.4x
PlatformNot specified
CommentsoriginalFile=Yoruban_large_indels_8.4x.gff
ReferenceMcKernan_et_al_2009
Pubmed ID19546169
Accession Number(s)esv2618457
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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